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Details for CPT2:c.1369A>T, p.Lys457Ter

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
53676715	53211043

VARIANT EFFECT

nonsense

ANNOTATION FLAG

automatically_attributed_and_verified

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1369A>T

PROTEIN CHANGE

p.Lys457Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
3.582e-05	0.0	0.0	0.0	0.0	0.0	7.923e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	7.737527	Disease causing

DBSNP ID

1 combination linked to CPT2:c.1369A>T, p.Lys457Ter

1 disease linked to CPT2:c.1369A>T, p.Lys457Ter

Recurrent exertional rhabdomyolysis

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